Premarital Screening Program for Congenital Factor XIII Deficiency in Iran

Area of Science:

• Genetics
• Hematology
• Public Health

Background:

• Factor XIII deficiency is a severe congenital bleeding disorder with high rates of life-threatening hemorrhages.
• Iran has the highest global incidence of Factor XIII deficiency.
• Affected individuals experience central nervous system bleeding, umbilical cord bleeding, and recurrent miscarriages.

Purpose of the Study:

• To design a premarital screening program for Factor XIII deficiency in Iran.
• To identify couples at risk for transmitting Factor XIII deficiency.
• To provide genetic counseling and inform reproductive decisions.

Main Methods:

• A descriptive study involving 30 couples with a family history of Factor XIII deficiency.
• Molecular testing, including PCR-RFLP, T-ARMS-PCR, and sequencing, to determine F13A gene mutations.
• Genetic analysis of family members and selected couples.

Main Results:

• Ten couples had a probability of affected childbirth.
• Three couples opted not to marry; seven proceeded with marriage.
• Among the three couples who decided to have a baby, none had a fetus with the F13A gene mutation (homozygote).

Conclusions:

• Premarital screening is crucial for diagnosing and managing Factor XIII deficiency.
• Implementing preventive programs like premarital screening can help control the incidence of this disorder.
• Genetic counseling and molecular testing empower couples to make informed reproductive choices.